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The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase by Philippe Goyette; Rima Rozen is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase about?

Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a carbon donor for homocysteine remethylation to methionine. Severe MTHFR deficiency is associated with hyperhomocysteinemia and homocystinuria. These patients show a wide variety of neurological and vascular symptoms, with variable age of onset. Residual enzyme activity is usually less than 20% of control values, and correlates reasonably well with age of onset of symptoms. A milder deficiency of MTHFR, with 30%-50% residual enzyme activity and increased enzyme thermolability, has been described as a risk factor for vascular disease and for neural tube defects. In earlier work, we isolated the human cDNA for MTHFR, and reported 14 mutations in severe MTHFR deficiency, as well as a common 677C®T missense mutation (Ala®Val) that encodes the thermolabile MTHFR. This variant has also been observed in some patients with severe MTHFR deficiency, in cis with their severe mutations. We report here the in vitro expression of seven severe MTHFR mutations in a bacterial expression system; six of these were expressed in cis with the Val allele to mimic the situati

Who reads The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase?

Author

Philippe Goyette; Rima Rozen

Publisher

Hindawi Limited

Published

2000

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)